Audiological profile in Apert syndrome

Audiological Profile in Laurencemoon Biedl Syndrome: A Case Study

Laurence-Moon Biedl (LMB) syndrome is an autosomal recessive genetic disorder, characterized by structural and functional abnormalities of organs [1]. This syndrome was first described by Laurence and Moon in 1866 [2]. This syndrome is also called Bardet-Biedl syndrome (BBS) as Bardet and Biedl added additional polydactyly feature [3]. The estimated incidence is 1:160,000 in northern European p...

Audiological Profile in Laurence Moon Biedl Syndrome: a Case Study

Apert Syndrome.

Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

Apert syndrome.

A case of Apert syndrome in a male child of 5 months old has been reported. The diagnosis was based on the clinical appearance (phenotype) showing acrocephaly and syndactyly of both hands and feet, supported by skull roentgenography and ultrasonography. The patient was the third child from normal parents, and the two other children were normal. Apert syndrome is a genetic dominant autosomal dis...

Apert syndrome.

Apert syndrome or acrocephalosyndactyly is a rare autosomal dominant malformation syndrome characterized by craniosynostosis, symmetric severe syndactyly, and a variety of abnormalities of the skin, skeleton, brain, and visceral organs. A case of Apert syndrome and the clinical and specific cutaneous manifestations of this condition are reviewed.